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773645004: Familial infantile gigantism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725352019 Hereditary infantile gigantism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725353012 Familial infantile gigantism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725354018 Familial infantile gigantism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725356016 Infantile gigantism due to pituitary hyperplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725357013 A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725352019 Hereditary infantile gigantism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725353012 Familial infantile gigantism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725354018 Familial infantile gigantism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725356016 Infantile gigantism due to pituitary hyperplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725357013 A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382781001000113 Akrogigantismus, X-chromosomaler de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930421000172113 gigantisme infantile héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
999161000172113 gigantisme infantile familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930421000172113 gigantisme infantile héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
999161000172113 gigantisme infantile familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382781001000113 Akrogigantismus, X-chromosomaler de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial infantile gigantism (disorder) Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial infantile gigantism (disorder) Interprets Hormone production true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial infantile gigantism (disorder) Is a Hypersomatotropic gigantism true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Due to Increased hormone secretion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial infantile gigantism (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile gigantism (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile gigantism (disorder) Associated morphology Growth acceleration true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile gigantism (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial infantile gigantism (disorder) Due to Overproduction of growth hormone true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial infantile gigantism (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile gigantism (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial infantile gigantism (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked acrogigantism due to Xq26 microduplication Is a True Familial infantile gigantism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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